Canonical Allele Identifier: CA658824024

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548297
• ClinVar RCV Id: RCV000661303
• dbSNP Id: rs1555590775
• MyVariant Identifiers: chr17:g.41245583_41245584insC (hg19) ; chr17:g.43093566_43093567insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093566_43093567insC , CM000679.2:g.43093566_43093567insC	GRCh38
NC_000017.10:g.41245583_41245584insC , CM000679.1:g.41245583_41245584insC	GRCh37
NC_000017.9:g.38499109_38499110insC	NCBI36
NG_005905.2:g.124417_124418insG , LRG_292:g.124417_124418insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2028_2029insG
ENST00000461574.2:c.1964_1965insG	ENSP00000417241.2:p.Tyr655Ter
ENST00000470026.6:c.1964_1965insG	ENSP00000419274.2:p.Tyr655Ter
ENST00000473961.6:c.1838_1839insG	ENSP00000420201.2:p.Tyr613Ter
ENST00000476777.6:c.1961_1962insG	ENSP00000417554.2:p.Tyr654Ter
ENST00000477152.6:c.1886_1887insG	ENSP00000419988.2:p.Tyr629Ter
ENST00000478531.6:c.784+1177_784+1178insG	ENSP00000420412.2:n.784+1177_784+1178insG
ENST00000489037.2:c.1886_1887insG	ENSP00000420781.2:p.Tyr629Ter
ENST00000493919.6:c.646+1177_646+1178insG	ENSP00000418819.2:n.646+1177_646+1178insG
ENST00000494123.6:c.1964_1965insG	ENSP00000419103.2:p.Tyr655Ter
ENST00000497488.2:c.1076_1077insG	ENSP00000418986.2:p.Tyr359Ter
ENST00000618469.2:c.1964_1965insG	ENSP00000478114.2:p.Tyr655Ter
ENST00000634433.2:c.1841_1842insG	ENSP00000489431.2:p.Tyr614Ter
ENST00000644379.2:c.1964_1965insG	ENSP00000496570.2:p.Tyr655Ter
ENST00000644555.2:c.646+1177_646+1178insG	ENSP00000494614.2:n.646+1177_646+1178insG
ENST00000652672.2:c.1823_1824insG	ENSP00000498906.2:p.Tyr608Ter
ENST00000484087.6:c.664+1177_664+1178insG	ENSP00000419481.2:n.664+1177_664+1178insG
ENST00000700182.1:c.706+1177_706+1178insG	ENSP00000514849.1:n.706+1177_706+1178insG
ENST00000357654.9:c.1964_1965insG MANE Select	ENSP00000350283.3:p.Tyr655Ter
ENST00000471181.7:c.1964_1965insG	ENSP00000418960.2:p.Tyr655Ter
ENST00000352993.7:c.670+2279_670+2280insG	ENSP00000312236.5:n.670+2279_670+2280insG
ENST00000354071.7:c.1964_1965insG	ENSP00000326002.7:p.Tyr655Ter
ENST00000357654.7:c.1964_1965insG	ENSP00000350283.3:p.Tyr655Ter
ENST00000461221.5:c.*1747_*1748insG	ENSP00000418548.1:n.*1747_*1748insG
ENST00000468300.5:c.787+1177_787+1178insG	ENSP00000417148.1:n.787+1177_787+1178insG
ENST00000471181.6:c.1964_1965insG	ENSP00000418960.2:p.Tyr655Ter
ENST00000478531.5:c.784+1177_784+1178insG	ENSP00000420412.1:n.784+1177_784+1178insG
ENST00000484087.5:c.409+1177_409+1178insG	ENSP00000419481.1:n.409+1177_409+1178insG
ENST00000487825.5:c.412+1177_412+1178insG	ENSP00000418212.1:n.412+1177_412+1178insG
ENST00000491747.6:c.787+1177_787+1178insG	ENSP00000420705.2:n.787+1177_787+1178insG
ENST00000493795.5:c.1823_1824insG	ENSP00000418775.1:p.Tyr608Ter
ENST00000493919.5:c.646+1177_646+1178insG	ENSP00000418819.1:n.646+1177_646+1178insG
ENST00000586385.5:c.5-29616_5-29615insG	ENSP00000465818.1:n.5-29616_5-29615insG
ENST00000591534.5:c.-43-19046_-43-19045insG	ENSP00000467329.1:n.-43-19046_-43-19045insG
ENST00000591849.5:c.-99+31704_-99+31705insG	ENSP00000465347.1:n.-99+31704_-99+31705insG
ENST00000634433.1:c.1841_1842insG	ENSP00000489431.1:p.Tyr614Ter
NM_007294.3:c.1964_1965insG , LRG_292t1:c.1964_1965insG	NP_009225.1:p.Tyr655Ter
NM_007297.3:c.1823_1824insG	NP_009228.2:p.Tyr608Ter
NM_007298.3:c.787+1177_787+1178insG	NP_009229.2:n.787+1177_787+1178insG
NM_007299.3:c.787+1177_787+1178insG	NP_009230.2:n.787+1177_787+1178insG
NM_007300.3:c.1964_1965insG	NP_009231.2:p.Tyr655Ter
NR_027676.1:n.2100_2101insG
NM_007294.4:c.1964_1965insG MANE Select	NP_009225.1:p.Tyr655Ter
NM_007297.4:c.1823_1824insG	NP_009228.2:p.Tyr608Ter
NM_007299.4:c.787+1177_787+1178insG	NP_009230.2:n.787+1177_787+1178insG
NM_007300.4:c.1964_1965insG	NP_009231.2:p.Tyr655Ter
NR_027676.2:n.2141_2142insG